HGVS | Genome Assembly |
---|---|
NC_000023.11:g.22032998C>A , CM000685.2:g.22032998C>A | GRCh38 |
NC_000023.10:g.22051116C>A , CM000685.1:g.22051116C>A | GRCh37 |
NC_000023.9:g.21961037C>A | NCBI36 |
NG_007563.2:g.5196C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000475778.2:n.419C>A | ||
ENST00000683214.1:n.419C>A | ||
ENST00000684143.1:c.-8C>A | ENSP00000508264.1:n.-8C>A | |
ENST00000379374.5:c.-8C>A MANE Select | ENSP00000368682.4:n.-8C>A | |
ENST00000379374.4:c.-8C>A | ENSP00000368682.4:n.-8C>A | |
NM_000444.5:c.-8C>A | NP_000435.3:n.-8C>A | |
NM_001282754.1:c.-8C>A | NP_001269683.1:n.-8C>A | |
XM_011545535.1:c.-8C>A | XP_011543837.1:n.-8C>A | |
XR_001755695.1:n.672C>A | ||
NM_000444.6:c.-8C>A MANE Select | NP_000435.3:n.-8C>A | |
NM_001282754.2:c.-8C>A | NP_001269683.1:n.-8C>A |